Pfeiffersyndrome

Pfeiffer syndrome is a rare genetic disorder characterized by the premature fusion of certain bones of the skull (craniosynostosis), which prevents further growth of the skull and affects the shape of the head and face. Pfeiffer syndrome also affects bones in the hands and feet. It is named after Rudolf Arthur Pfeiffer (b. 1931) who, in 1964, described a list of features that included a coronal synostosis, turribrachycephaly (high prominent forehead) and maxillary hypoplasia (eyes with a bulging appearance due to small underlying cheek bones). Pfeiffer syndrome affects about 1 in 100,000 births.

Many of the characteristic facial features that Pfeiffer described in Pfeiffer syndrome result from the premature fusion of the skull bones. The head is unable to grow normally, which leads to eyes that appear to bulge (proptosis) and are wide-set (hypertelorism), an underdeveloped upper jaw, and a beaked nose. About 50 percent of children with Pfeiffer syndrome have hearing loss (see hearing loss with craniofacial syndromes), and dental problems are also common. Broad thumbs and toes are extra-cranial features of this syndrome.

In people with Pfeiffer syndrome, the thumbs and first (big) toes are wide and bend away from the other digits. Unusually short fingers and toes (brachydactyly) are also common, and there may be some webbing or fusion between the digits (syndactyly).